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rs771578775

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
(C;T) 3 Carrier of a coenzyme Q10 deficiency mutation
(T;T) 5.6 Coenzyme Q10 Deficiency; severity varies
ReferenceGRCh38.p2 38.2/146
Chromosome1
Position226982996
GeneADCK3, COQ8A
is asnp
is mentioned by
dbSNPrs771578775
dbSNP (old)rs771578775
ClinGenrs771578775
ebirs771578775
HLIrs771578775
Exacrs771578775
Gnomadrs771578775
Varsomers771578775
Maprs771578775
PheGenIrs771578775
Biobankrs771578775
1000 genomesrs771578775
hgdprs771578775
ensemblrs771578775
gopubmedrs771578775
geneviewrs771578775
scholarrs771578775
googlers771578775
pharmgkbrs771578775
gwascentralrs771578775
openSNPrs771578775
23andMers771578775
23andMe allrs771578775
SNP Nexus

SNPshotrs771578775
SNPdbers771578775
MSV3drs771578775
GWAS Ctlgrs771578775
Max Magnitude5.6
ClinVar
Risk Rs771578775(T;T)
Alt Rs771578775(T;T)
Reference Rs771578775(C;C)
Significance Pathogenic
Disease Coenzyme Q10 deficiency not provided
Variation info
Gene COQ8A ADCK3
CLNDBN Coenzyme Q10 deficiency, primary, 4 not provided
Reversed 0
HGVS NC_000001.10:g.227170697C>T
CLNSRC
CLNACC RCV000201953.1, RCV000316605.2, RCV000416404.1,